esv2485224
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,145
- Description:originalFile=Yoruban_large_indels_8.4x.gff
- Publication(s):McKernan et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 248 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2485224 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,545,971 | 2,547,115 |
| esv2485224 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 894,087 | 895,231 |
| esv2485224 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 2,655,137 | 2,656,281 |
| esv2485224 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 2,525,398 | 2,526,542 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5394340 | Remapped | Perfect | NW_018654718.1:g.( 894087_?)_(?_89523 1)ins? | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 894,087 | 895,231 |
| essv5394340 | Remapped | Perfect | NC_000012.12:g.(25 45971_?)_(?_254711 5)ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,545,971 | 2,547,115 |
| essv5394340 | Remapped | Perfect | NC_000012.11:g.(26 55137_?)_(?_265628 1)ins? | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 2,655,137 | 2,656,281 |
| essv5394340 | Submitted genomic | NC_000012.10:g.(25 25398_?)_(?_252654 2)ins? | NCBI36 (hg18) | NC_000012.10 | Chr12 | 2,525,398 | 2,526,542 |